Objective To explore the clinical significance of changes in coagulation function related indexes in elderly patients with severe pneumonia.Methods A total of 127 elderly patients with severe pneumonia admitted to the Second People's Hospital of Liaocheng from January 2022 to December 2023 were included in observation group,and 135 patients with common pneumonia admitted during the same period were included in control group.The indexes of coagulation function[platelet(PLT),prothrombin time(PT),fibrinogen(FIB),activated partial thromboplastin time(APTT),thrombin time(TT),D-dimer(D-D)]within 24h after admission were compared between two groups.Results The age of patients in observation group was significantly higher than that in control group,and the proportion of smoking history,underlying disease and underlying disease≥2 was significantly higher than that in control group(P＜0.05).The positive rates of PT and D-D in observation group were significantly higher than those in control group(P＜0.05).PT and TT in observation group were significantly longer than control group,D-D level was significantly higher than that in control group,PLT level was significantly lower than that in control group(P＜0.05).Conclusion Patients with severe pneumonia often have abnormal coagulation function,and the detection of related indexes of coagulation function is of great significance to evaluate the condition of patients.

Objective:To explore the genetic etiology of fetal skeletal dysplasia using whole exome sequencing (WES) and copy number variation sequencing (CNV-seq) techniques, and the feasibility of using WES as the first-tier method for such fetuses.Methods:Seventy four fetuses with skeletal dysplasia detected by prenatal ultrasound at the Genetic Testing Center of the Women and Children′s Hospital Affiliated to Qingdao University from January 2020 to August 2024 were selected as the study subjects. Fetal muscle and peripheral blood samples of the pregnant women and their spouses were collected and subjected to WES analysis. CNV-seq was carried out on all fetal muscle tissue samples. And the results were compared with the CNVs indicated by WES. Genetic etiologies were analyzed across different subtypes of skeletal dysplasia. And the feasibility of using WES as the first-tier genetic test for similar fetuses was assessed, in addition with a systematic cost-effectiveness analysis. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: QFELL-YJ-2024-201).Results:A total of 50 fetuses were diagnosed, which yielded a diagnostic rate of 67.57%. These included 6 chromosomal aneuploidies, 4 chromosomal CNVs and 40 monogenic disorders. The monogenic diseases had involved 46 variant sites in 23 pathogenic genes, among which 12 were unreported previously, including MYH3: c. 735T>C, ALPL: c. 1324C>T, NEK9: c. 1973G>A, MAGEL2: c. 2024_2025del, LMBR1: c. 423+ 4914A>C, NEB: c. 21273_21276del, COL1A1: c. 2651G>C and c. 2758G>C, ASPM: c. 2473delinsGA, TBX5: c. 704G>A, DYNC2H1: c. 10893del, and DYNC2I2: c. 1270C>T. Substantial concordance was reached between WES-derived CNV calls and CNV-seq findings. No clinically significant CNV was exclusively detected by CNV-seq. Cost-effectiveness modeling demonstrated that implementing WES as the first-tier genetic testing method could reduce the total expenditure when WES unit cost remained below 6.4 folds that of the CNV-seq. Conclusion:Genetic variants including single nucleotide variations (SNV) of monogenic disorders, chromosomal aneuploidies and genomic CNVs are important causes for fetal skeletal dysplasia. WES is an accurate and efficient method for analyzing the etiology of fetal skeletal dysplasia, particularly in those with a family history of similar phenotype or maternal history of adverse pregnancies.

Objective:To explore the detection rate of copy number variations (CNVs) in fetuses with isolated Congenital anomalies of the kidney and urinary tract (CAKUT) and pregnancy outcomes in order to provide a basis for genetic counseling.Methods:One hundred and eighty eight fetuses who underwent chromosomal microarray analysis (CMA) due to isolated CAKUT detected by prenatal ultrasonography at Qingdao Women and Children′s Hospital from January 2021 to December 2024 were selected as the study subjects. According to the ultrasound findings, the fetuses were divided into 8 groups, including renal parenchymal dysplasia group, renal cystic dysplasia group, simple renal parenchymal echo enhancement group, abnormal development of renal collecting system group, duplicated kidney group, ectopic kidney group, horseshoe kidney group, and bladder/posterior urethral abnormalities group. The detection of CNVs was retrospectively analyzed, and the pregnant women were followed up to summarize their pregnancy outcomes. 2 test (or Fisher′s exact probability method) was used to compare the CNV detection rates between the groups. This study was approved by the Medical Ethics Committee of the Qingdao Women and Children′s Hospital (Ethics No.: QFELL-YJ-2025-85).Results:Among the 188 fetuses with isolated CAKUT, 23 CNVs (12.23%) were detected, of which 13 cases (6.91%) were pathogenic and 10 cases were rated as variants of unknown significance (VOUS). Among the 8 groups, the three groups with the highest proportion were renal cystic dysplasia group, renal metaplasia group, and renal parenchymal dysplasia group. The detection rates of pathogenic CNVs in the three groups were 1.79% (1/56), 6.78% (4/59), and 16.67% (5/30), respectively, with statistically significant differences ( P<0.05). Parental verification was conducted on 12 fetuses detected with the CNVs, confirming that 2 cases were de novo and 10 were inherited from parents with a normal phenotype. After genetic counseling, the parents of 9 fetuses opted to terminate the pregnancy, while 11 chose to continue with the pregnancy, and 3 were lost to follow-up. At the time of last follow-up, the youngest offspring was 5 months old and the oldest was 3 years and 11 months old. One child had renal aplasia, and two were born with hydronephrosis, which have been cured through surgery. The remainders had no obvious abnormality with their growth and development. Conclusion:CMA testing has important value for prenatal diagnosis of isolated CAKUT. In this study, the detection rate of pathogenic CNVs has increased sequentially in fetuses with renal cystic developmental abnormalities, renal collecting system developmental abnormalities, and renal parenchymal dysplasia, while there was no significant difference in the detection rate of CNVs. For fetuses with isolated CAKUT detected by prenatal ultrasound, CMA testing should be considered, and reasonable pregnancy decisions should be made based on the results of prenatal ultrasound and parental verification.

[Objective]Taking the research and innovation ability cultivation for professional degree graduate student of traditional Chinese medicine(TCM)as an example,to actively explore a new model for building the research and innovation ability cultivation system for professional degree graduate students.[Methods]This study identifies key challenges in cultivating research innovation capabilities among Master's students in TCM under existing policies,proposes systemic reforms encompassing policy frameworks,curricular models,platform and project development,evaluation standards and other training methodologies,and explores the construction of a novel system for enhancing the research innovation capacity of TCM Master's students and summarizes practical outcomes achieved under this new system.[Results]The main issues in the current cultivation of research and innovation ability for professional degree graduate student of TCM include:inadequate policy support,fragmented of innovation courses,difficulty in platform support and unclear ability indicators.The team has developed a new"Tri-party Collaboration and Four-Wheel Drive"model,through the collaboration of the university,clinical medical colleges and graduate training bases,and constructed a new system for cultivating research and innovation ability,guided by"policy and institutional incentives",based on"curriculum model reform",supported by"platform and project integration",and measured by"evaluation standards".Practice has proven that this system has significantly increased the number of high-level academic papers published by graduate students,the number of excellent dissertations and the number of students pursuing doctoral degrees.[Conclusion]By gathering the combined efforts of three parties,The Second School of Clinical Medicine,Zhejiang Chinese Medical University is focusing on building a new system for cultivating research and innovation abilities of professional degree graduate students in TCM,which plays a positive role in cultivating skilled clinical and excellent scientific research talents in traditional Chinese medicine,and is worthy of further improvement and promotion.

Objective:To investigate the genetic etiology of 15 patients with suspected Marfan syndrome(MFS).Methods:Fifteen patients clinically suspected of having MFS who attended the Women and Children′s Hospital Affiliated to Qingdao University between January 2020 and August 2024 were enrolled. Amniotic fluid samples from fetuses and EDTA-anticoagulated peripheral blood samples from the patients and their family members were collected. Genomic DNA was extracted and subjected to whole exome sequencing(WES). Variants identified in positive cases were further validated by Sanger sequencing. The pathogenicity of the detected variants was assessed according to the guidelines and supplemental criteria of the American College of Medical Genetics and Genomics(ACMG).Results:All 15 patients were found to carry variants in the FBN1 gene, including 9 pathogenic variants, 5 likely pathogenic variants, and 1 variant of uncertain significance(VUS). Notably, eight novel pathogenic or likely pathogenic variants not previously reported in the literature were identified: c. 213G>C, c. 469G>T, c. 3337+ 2dup, c. 4087+ 1G>T, c. 7331_7334dup, c. 8146del, c. 8227dup, and c. 8425_8426insG. According to the revised Ghent criteria(2010), only 2 patients could be clinically diagnosed with MFS prior to WES. However, after incorporating WES-derived molecular evidence, 8 patients fulfilled the diagnostic criteria for MFS.Conclusion:The combination of WES and clinical phenotype assessment can substantially improve the diagnostic yield for MFS. Furthermore, the identification of these novel FBN1 variants expands the mutational spectrum of the gene and provides valuable evidence for future genetic counselling, prenatal diagnosis, and pathogenicity interpretation of neighboring variants.

Objective:To explore the impact of the Guided Care nursing model on exercise adherence and knee joint function recovery in patients after total knee arthroplasty (TKA) .Methods:A total of 106 TKA patients from Zhengzhou Orthopedic Hospital, selected by convenience sampling between January 2023 and January 2024, were randomly assigned to the observation group and the control group (53 patients in each group) . The control group received routine nursing care, while the observation group received Guided Care nursing model intervention in addition to the routine care. Exercise adherence (assessed using the Orthopedic Patients' Exercise Adherence Scale) , knee joint function recovery [assessed using the Hospital for Special Surgery Knee Score (HSS) and Range of Motion (ROM) ] , and postoperative complication rates were compared between the two groups.Results:After intervention, the observation group showed significantly higher total scores for exercise adherence, HSS scores, and ROM compared to the control group ( P<0.05) . Additionally, the total postoperative complication rate in the observation group was lower than that of the control group, with statistically significant difference ( P<0.05) . Conclusions:The Guided Care nursing model intervention effectively improves exercise adherence in TKA patients, accelerates knee joint function recovery, and reduces postoperative complications.

Objective:To explore the efficacy of multi-component exercise intervention in the rehabilitation nursing of elderly patients with intertrochanteric femoral fractures and frailty.Methods:Between January and December 2023, 130 elderly patients with intertrochanteric femoral fractures and frailty admitted to Zhengzhou Orthopaedic Hospital were selected by convenience sampling method. The patients were divided into control group ( n=65) and observation group ( n=65) using the random number table method. Control group implemented conventional nursing and observation group was treated with multi-component exercise intervention, both intervening for three months. The rehabilitation status of two groups of patients was evaluated with the Modified Barthel Index (MBI) and Functional Independence Measure (FIM) . Harris Hip Score (HHS) , Physical Frailty Phenotype, Medical Outcomes Study 36-item Short-Form Health Survey (SF-36) and Compliance Scale of Functional Exercise for Orthopedic Patients were used to evaluate the hip function, frailty, quality of life and exercise compliance. Results:After intervention, the MBI score, FIM score and SF-36 score of control group were lower than those of observation group, and the Physical Frailty Phenotype score was higher than that of observation group, and the differences were statistically significant ( P<0.05) . At one and three months after intervention, the HHS scores of observation group were higher than those of control group, and the differences were statistically significant ( P<0.05) . During the intervention period, the exercise compliance of patients in observation group was higher than that of control group, and the difference was statistically significant ( P<0.05) . Conclusions:Multi-component exercise intervention promotes postoperative rehabilitation, improves hip function and quality of life, alleviates the frailty, and enhances exercise compliance in elderly patients with intertrochanteric femoral fractures and frailty.

Objective To explore the clinical effect of using the Brisson technique combined with a precise measurement scheme in the treatment of hidden penis.Methods The clinical data of 120 children with hidden penis treated in our hospital from January 2021 to June 2024 were retrospectively analyzed.The enrolled children were randomly divided into the study group(n=60)and the control group(n=60).The study group was treated with the Brisson technique combined with a precise measurement scheme,and the cutting of the penile skin was designed according to the data.The control group was treated with the traditional Devine technique.The surgical effects,penile lengths before and after surgery,and the incidence of postoperative complications of the children in the two groups were compared and analyzed.Results The effective rate of the study group reached 100％,which was significantly higher than that of the control group(93％,P＜0.05).Six months after surgery,the penile length of the children in the study group was longer than that in the control group,and the difference was statistically significant(P＜0.05).The incidence of surgical complications in the study group was 5％,which was significantly lower than that in the control group(17％,P＜0.05).Conclusion Using the Brisson technique combined with a precise measurement scheme to treat hidden penis has a good effect,a high effective rate,and a low incidence of complications.

Objective To explore the clinical significance of changes in coagulation function related indexes in elderly patients with severe pneumonia.Methods A total of 127 elderly patients with severe pneumonia admitted to the Second People's Hospital of Liaocheng from January 2022 to December 2023 were included in observation group,and 135 patients with common pneumonia admitted during the same period were included in control group.The indexes of coagulation function[platelet(PLT),prothrombin time(PT),fibrinogen(FIB),activated partial thromboplastin time(APTT),thrombin time(TT),D-dimer(D-D)]within 24h after admission were compared between two groups.Results The age of patients in observation group was significantly higher than that in control group,and the proportion of smoking history,underlying disease and underlying disease≥2 was significantly higher than that in control group(P＜0.05).The positive rates of PT and D-D in observation group were significantly higher than those in control group(P＜0.05).PT and TT in observation group were significantly longer than control group,D-D level was significantly higher than that in control group,PLT level was significantly lower than that in control group(P＜0.05).Conclusion Patients with severe pneumonia often have abnormal coagulation function,and the detection of related indexes of coagulation function is of great significance to evaluate the condition of patients.

OBJECTIVE: To explore the genetic etiology of fetal skeletal dysplasia using whole exome sequencing (WES) and copy number variation sequencing (CNV-seq) techniques, and the feasibility of using WES as the first-tier method for such fetuses. METHODS: Seventy four fetuses with skeletal dysplasia detected by prenatal ultrasound at the Genetic Testing Center of the Women and Children's Hospital Affiliated to Qingdao University from January 2020 to August 2024 were selected as the study subjects. Fetal muscle and peripheral blood samples of the pregnant women and their spouses were collected and subjected to WES analysis. CNV-seq was carried out on all fetal muscle tissue samples. And the results were compared with the CNVs indicated by WES. Genetic etiologies were analyzed across different subtypes of skeletal dysplasia. And the feasibility of using WES as the first-tier genetic test for similar fetuses was assessed, in addition with a systematic cost-effectiveness analysis. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: QFELL-YJ-2024-201). RESULTS: A total of 50 fetuses were diagnosed, which yielded a diagnostic rate of 67.57%. These included 6 chromosomal aneuploidies, 4 chromosomal CNVs and 40 monogenic disorders. The monogenic diseases had involved 46 variant sites in 23 pathogenic genes, among which 12 were unreported previously, including MYH3: c.735T>C, ALPL: c.1324C>T, NEK9: c.1973G>A, MAGEL2: c.2024_2025del, LMBR1: c.423+4914A>C, NEB: c.21273_21276del, COL1A1: c.2651G>C and c.2758G>C, ASPM: c.2473delinsGA, TBX5: c.704G>A, DYNC2H1: c.10893del, and DYNC2I2: c.1270C>T. Substantial concordance was reached between WES-derived CNV calls and CNV-seq findings. No clinically significant CNV was exclusively detected by CNV-seq. Cost-effectiveness modeling demonstrated that implementing WES as the first-tier genetic testing method could reduce the total expenditure when WES unit cost remained below 6.4 folds that of the CNV-seq. CONCLUSION Genetic variants including single nucleotide variations (SNV) of monogenic disorders, chromosomal aneuploidies and genomic CNVs are important causes for fetal skeletal dysplasia. WES is an accurate and efficient method for analyzing the etiology of fetal skeletal dysplasia, particularly in those with a family history of similar phenotype or maternal history of adverse pregnancies.
Humans ; Exome Sequencing/methods* ; Female ; Pregnancy ; DNA Copy Number Variations/genetics* ; Genetic Testing/methods* ; Prenatal Diagnosis/methods* ; Adult ; Male ; Fetus ; Bone Diseases, Developmental/diagnosis* ; Ultrasonography, Prenatal